ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-IV-A by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.-54G>A rs369448232 0.00280
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.*523G>A rs181174683 0.00076
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_000512.5(GALNS):c.*197C>T rs187469283 0.00051
NM_000512.5(GALNS):c.*573A>G rs551511278 0.00047
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000512.5(GALNS):c.*140C>A rs557356503 0.00031
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.*29A>C rs377151771 0.00027
NM_000512.5(GALNS):c.1482+4A>G rs377407678 0.00026
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.*656T>C rs763539126 0.00019
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn) rs202031547 0.00018
NM_000512.5(GALNS):c.*287T>C rs776880179 0.00014
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000512.5(GALNS):c.*145C>T rs539285988 0.00004
NM_000512.5(GALNS):c.*95T>A rs536448022 0.00004
NM_000512.5(GALNS):c.97A>G (p.Ile33Val) rs768296954 0.00004
NM_000512.5(GALNS):c.*610G>T rs755706847 0.00003
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu) rs769748679 0.00003
NM_000512.5(GALNS):c.*263T>C rs886052451 0.00002
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val) rs201153945 0.00002
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00002
NM_000512.5(GALNS):c.*144T>C rs1157099470 0.00001
NM_000512.5(GALNS):c.*186C>G rs1032068378 0.00001
NM_000512.5(GALNS):c.*20C>G rs886052454 0.00001
NM_000512.5(GALNS):c.*503T>G rs573836350 0.00001
NM_000512.5(GALNS):c.*639T>G rs1186947306 0.00001
NM_000512.5(GALNS):c.*86C>T rs897826613 0.00001
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe) rs368784505 0.00001
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp) rs762690924 0.00001
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr) rs763093375 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*212C>A rs117754023
NM_000512.5(GALNS):c.*261T>G rs915733731
NM_000512.5(GALNS):c.*270T>C rs1909389591
NM_000512.5(GALNS):c.*387T>G rs1909377767
NM_000512.5(GALNS):c.*520C>A rs80125890
NM_000512.5(GALNS):c.*70T>C rs933630786
NM_000512.5(GALNS):c.-10C>G rs781533703
NM_000512.5(GALNS):c.-58C>A rs1244075467
NM_000512.5(GALNS):c.-58C>G rs1244075467
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1410G>A (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu) rs1298604798

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